What is porphyria?
Porphyria refers to a group of disorders that result from a buildup of natural chemicals that produce porphyrin in your body. Porphyrins are essential for the function of hemoglobin. High levels of porphyrins can cause significant problems.
There are two general categories of porphyria: acute, which mainly affects the nervous system, and cutaneous, which mainly affects the skin. Some types of porphyria have both nervous system symptoms and skin symptoms.
Porphyria is usually inherited.
Although porphyria can't be cured, certain lifestyle changes to avoid triggering symptoms may help you manage it. Treatment for symptoms depends on the type of porphyria you have.
Symptoms
Symptoms of porphyria can vary widely in severity, by type and among individuals. Some people with the gene mutations that cause porphyria never have any symptoms.
Cutaneous porphyrias
Cutaneous porphyrias include forms of the disease that cause skin symptoms as a result of sensitivity to sunlight, but these forms don't usually affect your nervous system.
As a result of sun exposure, you may experience:
- Sensitivity to the sun and sometimes artificial light, causing burning pain
- Sudden painful skin redness (erythema) and swelling (edema)
- Blisters on exposed skin, usually the hands, arms and face
- Fragile thin skin with changes in skin color (pigment)
- Itching
- Excessive hair growth in affected areas
- Red or brown urine
Acute porphyrias
Acute porphyrias include forms of the disease that typically cause nervous system symptoms, which appear quickly and can be severe.
Signs and symptoms of acute porphyria may include:
- Severe abdominal pain
- Pain in your chest, legs or back
- Constipation or diarrhea
- Nausea and vomiting
- Muscle pain, tingling, numbness, weakness or paralysis
- Red or brown urine
- Mental changes, such as anxiety, confusion, hallucinations, disorientation or paranoia
- Breathing problems
- Urination problems
- Rapid or irregular heartbeats you can feel (palpitations)
- High blood pressure
- Seizures
Source:
https://www.mayoclinic.org/diseases-conditions/porphyria/symptoms-causes/syc-
20356066
